Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. (Record no. 22578047)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 02065 a2200637 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516141006.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201405s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1476-5438 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/ejhg.2013.39 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Li Mura, Ilena Egle Astrid |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20140507 |
| 245 00 - TITLE STATEMENT | |
| Title | Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | European journal of human genetics : EJHG |
| Date of publication, distribution, etc. | Nov 2013 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1226-31 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Adult |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Aged, 80 and over |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Arrhythmogenic Right Ventricular Dysplasia |
| General subdivision | diagnostic imaging |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Chromosomes, Human, Pair 12 |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Family |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Deletion |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Gene Dosage |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Linkage |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Middle Aged |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pedigree |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Plakophilins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Real-Time Polymerase Chain Reaction |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Ultrasonography |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Young Adult |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bauce, Barbara |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nava, Andrea |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Fanciulli, Manuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vazza, Giovanni |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mazzotti, Elisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rigato, Ilaria |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | De Bortoli, Marzia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Beffagna, Giorgia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lorenzon, Alessandra |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Calore, Martina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dazzo, Emanuela |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nobile, Carlo |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mostacciuolo, Maria Luisa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Corrado, Domenico |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basso, Cristina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Daliento, Luciano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiene, Gaetano |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Rampazzo, Alessandra |
| 773 0# - HOST ITEM ENTRY | |
| Title | European journal of human genetics : EJHG |
| Related parts | vol. 21 |
| -- | no. 11 |
| -- | p. 1226-31 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/ejhg.2013.39">https://doi.org/10.1038/ejhg.2013.39</a> |
| Public note | Available from publisher's website |
No items available.